Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357858 Individual ID 00473063 Associated disease CMT Phenotype details onset 11y, Laxity in fingers, wrists & elbows; Distal > proximal muscle weakness & wasting; Abnormal gait, imbalance; Difficulty walking, running & climbing steps; Hand tremor; Muscle cramps; Claw toes, mild; Bilateral pes cavus; Thenar & hypothenar atrophy; Axonal neuropathy; EMG-NCV: distal sensory, motor polyneuropathic process mainly axonal with active axonal degeneration. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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